ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.1311T>C (p.His437=)

gnomAD frequency: 0.00099  dbSNP: rs150186077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177418 SCV000229274 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317034 SCV000849585 likely benign Inborn genetic diseases 2016-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177418 SCV000884425 benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177418 SCV001044664 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000177418 SCV001874477 benign not provided 2020-06-03 criteria provided, single submitter clinical testing

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